Pneumonia is a respiratory condition with complex etiology. Host genetic variation is thought to contribute to individual differences in susceptibility and symptom manifestation. Here, we analyze pneumonia data from the UK Biobank (14,780 cases and 439,096 controls) and FinnGen (9980 cases and 86,519 controls) and perform a genomewide association study meta-analysis. We use gene-based tests, colocalization, genetic correlation, latent causal variable (LCV) and polygenic prediction in an independent Australian sample (N = 5595) to draw insights into the etiology of pneumonia risk. We identify two independent loci on chromosome 15 (lead single-nucleotide polymorphisms rs2009746 and rs76474922) to be associated with pneumonia (p < 5e−8). Gene-based tests revealed 18 genes in chromosomes 15, 16 and 9, including IL127, PBX3, ApoB receptor (APOBR) and smoking related genes CHRNA3/5, statistically associated with pneumonia. We observed genetic correlations between pneumonia and cardiorespiratory, psychiatric and inflammatory related traits. LCV analysis suggests a strong genetic causal relationship with cardiovascular health phenotypes. Polygenic risk scores for pneumonia significantly predicted self-reported pneumonia in an independent sample, albeit with a small effect size (OR = 1.11 95% CI [1.04, 1.19], p < .05). Sensitivity analyses suggested the associations in chromosome 15 are mediated by smoking history, but the associations in chromosomes 16 and 9, and polygenic prediction were robust to adjustment for smoking. Altogether, our results highlight common genetic variants, genes and potential pathways that contribute to individual differences in susceptibility to pneumonia, and advance our understanding of the genetic factors underlying heterogeneity in respiratory medical outcomes.

Strong associations between neural tube defects (NTDs) and monozygotic (MZ) twinning have long been noted, and it has been suggested that NTD cases who do not present as MZ twins may be the survivors of MZ twinning events. We have recently shown that MZ twins carry a strong, distinctive DNA methylation signature and have developed an algorithm based on genomewide DNA methylation array data that distinguishes MZ twins from dizygotic twins and other relatives at well above chance level. We have applied this algorithm to published methylation data from five fetal tissues (placental chorionic villi, kidney, spinal cord, brain and muscle) collected from spina bifida cases (n = 22), anencephalic cases (n = 15) and controls (n = 19). We see no difference in signature between cases and controls, providing no support for a common etiological role of MZ twinning in NTDs. The strong associations therefore continue to await elucidation.

The Hardy–Weinberg law of population genetics is usually associated with the notion of random mating of parents. A numerical example for a triallelic autosomal locus shows that an uncountable set of mating combinations can maintain Hardy–Weinberg proportions. Therefore, one cannot infer random mating in a population from the observation of Hardy–Weinberg equilibrium. The mating system which ensures that the genotypic distribution of offspring is the same as that of the parents is specified.

Over the previous decades, twinning rates worldwide have increased remarkably. This study aimed to describe changes in multiple birth rates and related demographic characteristics, such as maternal age and the level of education of parents in South Korea from 1981 to 2019. This study analyzed birth data obtained from the Korean Statistical Information Service. From 1981 to 2019, the total twinning rate increased from 5 to 22.5 pairs per 1000 births. This rapid increase was due to an increase in dizygotic twin births, which mainly occurred in mothers aged between 30 and 39 years. The average maternal age of multiples increased from 26.06 years in 1981 to 33.98 years in 2019, suggesting that a delay in childbearing contributed to the increase in the twinning rate. The percentage of mothers of multiples who completed a college or higher degree (CHD) increased by 1000% from 1981 to 2019, indicating that a sharp increase in the level of education of females in part explains the delay in childbearing. The percentages of individuals who completed a CHD were higher among parents of multiples than among those of singletons in recent years when public funding arrangements for fertility treatments were available. This result suggested that completion of higher education may be associated with increased use of assisted reproductive technology (ART) independent of the financial status of couples. Taken together, the analysis suggested that increased maternal age, ART and the increased number of females who completed CHD may be responsible for the remarkable increase in the rates of multiple births in South Korea in the last four decades.

Accurate zygosity determination is a fundamental step in twin research. Although DNA-based testing is the gold standard for determining zygosity, collecting biological samples is not feasible in all research settings or all families. Previous work has demonstrated the feasibility of zygosity estimation based on questionnaire (physical similarity) data in older twins, but the extent to which this is also a reliable approach in infancy is less well established. Here, we report the accuracy of different questionnaire-based zygosity determination approaches (traditional and machine learning) in 5.5 month-old twins. The participant cohort comprised 284 infant twin pairs (128 dizygotic and 156 monozygotic) who participated in the Babytwins Study Sweden (BATSS). Manual scoring based on an established technique validated in older twins accurately predicted 90.49% of the zygosities with a sensitivity of 91.65% and specificity of 89.06%. The machine learning approach improved the prediction accuracy to 93.10%, with a sensitivity of 91.30% and specificity of 94.29%. Additionally, we quantified the systematic impact of zygosity misclassification on estimates of genetic and environmental influences using simulation-based sensitivity analysis on a separate data set to show the implication of our machine learning accuracy gain. In conclusion, our study demonstrates the feasibility of determining zygosity in very young infant twins using a questionnaire with four items and builds a scalable machine learning model with better metrics, thus a viable alternative to DNA tests in large-scale infant twin studies.

Formation of identity and differentiation is crucial in the development process of adolescents and young people. Despite many studies on identity status and self-differentiation in adolescence and early adulthood stages, this issue has been less examined among twins. This study was conducted to compare self-differentiation and identity statuses in twins and nontwins. The sample of the study consisted of 128 identical twins, 176 nonidentical twins and 170 nontwins aged from 13 to 30 years and living in Mashhad in Iran, who completed the Objective Measure of Ego Identity Status and Self-Differentiation questionnaires. The results showed that the self-differentiation of identical and nonidentical twins was significantly higher than nontwins. The results also showed that level of Foreclosure identity, Moratorium identity and Achieved identity was similar among identical twins, nonidentical twins and nontwins, but significantly different in terms of Diffusion identity. Further, the results showed that twins younger than 18 years had scores higher than nontwins and twins over 18 years in terms of Diffusion identity. Findings revealed that females were significantly lower than males for Moratorium identity. The adolescence period and co-twins may be the reason for the high levels of Diffusion identity and self-differentiation. Also, it seems that identity development and differentiation are related to emotional and cognitive development.

We report a very rare case of monochorionic dizygotic twins conceived spontaneously. The fetuses were sex-discordant in ultrasonography despite being monochorionic twins. After birth, the girl and boy showed normal phenotypes but they showed blood chimerism in karyotype and blood group type.

Selective termination is the term used for the elimination of an abnormal fetus. In contrast, multifetal pregnancy reduction refers to the termination of one or more members of a twin or higher-order multiple birth set, respectively, to reduce the high risks associated with these pregnancies. The procedure can also be used when a serious physical condition is detected prenatally in a member of a multiple birth set. In a minority of cases, selective termination has reduced two healthy fetuses to one when parents wanted just one additional child in the family. In the present article, the perspectives of a surviving twin whose family wished to terminate both healthy fetuses are examined. Next, past and present twin studies of primordial dwarfism, public service motivation, an analytical model, the global twinning rate and germline differences are summarized. The article concludes with a synopsis of twin-related news that covers twins and Dyngus Day, triplets born in an Austrian displaced persons’ camp, the film Superior — about estranged identical twin sisters, a couple adopting their own twins after surrogacy and a new case of twins and primordial dwarfism, a condition introduced in the research reviews.